COMUS: Clinician-Oriented locus-specific mutation detection and deposition system

BMC Genomics

Volumn 10, Issue SUPPL. 3, 2009, Pages

  Jho, Sungwoong ^a,d   Kim, Byoung Chul ^a   Ghang, Ho ^a,d   Kim, Ji Han ^a   Park, Daeui ^a   Kim, Hak Min ^a   Jung, Soo young ^b   Yoo, Ki young ^b   Kim, Hee Jin ^c   Lee, Sunghoon ^a   Bhak, Jong ^a  

^a Korea Research Institute of Bioscience and Biotechnology (KRIBB)   (South Korea)

^b Korea Hemophilia Foundation Clinic   (South Korea)

^c Sungkyunkwan University School of Medicine   (South Korea)

^d University of Science and Technology (UST)   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BIOINFORMATICS; CLINICIAN ORIENTED LOCUS SPECIFIC MUTATION DETECTION AND DEPOSITION SYSTEM; COMPUTER INTERFACE; DNA SEQUENCE; GENETIC DATABASE; HEMOPHILIA; MUTATIONAL ANALYSIS; VALIDATION PROCESS; WEB BROWSER; BIOLOGY; COMPUTER PROGRAM; GENE LOCUS; GENETICS; HEMOPHILIA A; HUMAN; INTERNET; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; SEQUENCE ALIGNMENT;

BENCH EXPERIMENT; BIOINFORMATICS TOOLS; CLINICAL INFORMATION; CLINICAL UTILITY; CONSTRUCTION SYSTEMS; CURATION; DATA FILES; DATA IDENTIFICATION; DATA MATERIALS; DEPOSITION SYSTEMS; GENETIC CHANGES; INPUT DATAS; MUTATION ANALYSIS; MUTATION DETECTION;

DEPOSITION; DIAGNOSIS; MEDICAL COMPUTING; PATIENT TREATMENT;

BIOINFORMATICS;

BASE SEQUENCE; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; GENETIC LOCI; HEMOPHILIA A; HUMANS; INTERNET; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE ALIGNMENT; SOFTWARE DESIGN;

EID: 71549156550     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-10-S3-S35     Document Type: Article

References (17)

1. Cruts M, Van Broeckhoven C. Presenilin mutations in Alzheimer's disease. Hum Mutat 1998, 11(3):183-190. 10.1002/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J, 9521418.
2. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, Burgt I, Crosby AH, Ion A, Jeffery S. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001, 29(4):465-468. 10.1038/ng772, 11704759.
3. Franke B, Neale BM, Faraone SV. Genome-wide association studies in ADHD. Hum Genet 2009,
4. Yamaguchi Y, Watanabe H, Yrdiran S, Ohtsubo K, Motoo Y, Okai T, Sawabu N. Detection of mutations of p53 tumor suppressor gene in pancreatic juice and its application to diagnosis of patients with pancreatic cancer: comparison with K-ras mutation. Clin Cancer Res 1999, 5(5):1147-1153.
5. Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol 2001, 117(2):179-187. 10.1046/j.1523-1747.2001.01389.x, 11511292.
6. Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 2005, (33 Database):D514-517. 539987, 15608251.
7. Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. The Human Gene Mutation Database: 2008 update. Genome Med 2009, 1(1):13. 2651586, 19348700.
8. Horaitis O, Talbot CC, Phommarinh M, Phillips KM, Cotton RG. A database of locus-specific databases. Nat Genet 2007, 39(4):425. 10.1038/ng0407-425, 17392794.
9. Beroud C, Collod-Beroud G, Boileau C, Soussi T, Junien C. UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Hum Mutat 2000, 15(1):86-94. 10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4, 10612827.
10. Fokkema IF, den Dunnen JT, Taschner PE. LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat 2005, 26(2):63-68. 10.1002/humu.20201, 15977173.
11. Brown AF, McKie MA. MuStaR and other software for locus-specific mutation databases. Hum Mutat 2000, 15(1):76-85. 10.1002/(SICI)1098-1004(200001)15:1<76::AID-HUMU15>3.0.CO;2-8, 10612826.
12. Riikonen P, Vihinen M. MUTbase: maintenance and analysis of distributed mutation databases. Bioinformatics 1999, 15(10):852-859. 10.1093/bioinformatics/15.10.852, 10705438.
13. Ewing B, Hillier L, Wendl MC, Green P. Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome Res 1998, 8(3):175-185.
14. Ewing B, Green P. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res 1998, 8(3):186-194.
15. Kent WJ. BLAT--the BLAST-like alignment tool. Genome Res 2002, 12(4):656-664. 187518, 11932250.
16. Kuhn RM, Karolchik D, Zweig AS, Wang T, Smith KE, Rosenbloom KR, Rhead B, Raney BJ, Pohl A, Pheasant M. The UCSC Genome Browser Database: update 2009. Nucleic Acids Res 2009, (37 Database):D755-761. 10.1093/nar/gkn875, 2686463, 18996895.
17. Siepel A, Bejerano G, Pedersen JS, Hinrichs AS, Hou M, Rosenbloom K, Clawson H, Spieth J, Hillier LW, Richards S. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res 2005, 15(8):1034-1050. 10.1101/gr.3715005, 1182216, 16024819.